rs80338775

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80338775(A;A)

Make rs80338775(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

28402322

Gene

SLC46A1

is a	snp
is	mentioned by
dbSNP	rs80338775
dbSNP (classic)	rs80338775
ClinGen	rs80338775
ebi	rs80338775
HLI	rs80338775
Exac	rs80338775
Gnomad	rs80338775
Varsome	rs80338775
LitVar	rs80338775
Map	rs80338775
PheGenI	rs80338775
Biobank	rs80338775
1000 genomes	rs80338775
hgdp	rs80338775
ensembl	rs80338775
geneview	rs80338775
scholar	rs80338775
google	rs80338775
pharmgkb	rs80338775
gwascentral	rs80338775
openSNP	rs80338775
23andMe	rs80338775
SNPshot	rs80338775
SNPdbe	rs80338775
MSV3d	rs80338775
GWAS Ctlg	rs80338775

Max Magnitude

0

OMIM	611672
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80338775(A;A)
Alt	rs80338775(A;A)
Reference	Rs80338775(G;G)
Significance	Pathogenic
Disease	Congenital defect of folate absorption
Variation	info
Gene	SLC46A1
CLNDBN	Congenital defect of folate absorption
Reversed	1
HGVS	NC_000017.10:g.26729340C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000898.1,

[PMID 11807405] Hereditary folate malabsorption: family report and review of the literature.

[PMID 17129779] Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.